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The Whiter, Brighter Pupil: Leukocoria in Children

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The Whiter, Brighter Pupil: Leukocoria in Children The Whiter, Brighter Pupil: Leukocoria in Children Instructor: James Kundart OD, MEd, FAAO, FCOVD-A Section: Functional Vision/Pediatrics COPE Course ID: 41918 FV Expiration Date: June 22, 2017 Qualified Credits: 1.00 credits - $39.00 COURSE DESCRIPTION: This course will cover causes of monocular vision loss in young patients, including congenital cataract, retinoblastoma tumors of the eye and brain, and genetic conditions that can threaten both sight and, sometimes, the life of the patient. LEARNING OBJECTIVES: 1. Which is the minimum number of tumors per eye that are seen to prove a case of genetic retinoblastoma? 2. What is the treatment of choice for retinoblastoma in recent years? 3. What is “trilateral” retinoblastoma? Where is the third tumor found in these cases? 4. Which cause of leukocoria is affected by diet? 5. Which cause of leukocoria is genetic and inherited less than 10% of the time? The course begins on page 2 Hello and welcome to The Whiter, Brighter Pupil: Figure 1: Leukocoria due to retinoblastoma in two Leukocoria in Children. I am Dr. James Kudart and I am patients an associate professor at Pacific University College of Optometry. This presentation was co-created by my colleague, Dr. Nadine Hanna from NOVA Southeastern University. She will not be able to present with us today, but the content remains equally both of ours, and I wanted to insure that she gets full credit for what she has created. There have been a few modifications to this presentation since it was first created for the 2012 American Academy of Optometry meeting in Phoenix, where it was first presented. In Figure 1, we see two different causes of Leukocoria, not to be confused with Leukocornea, where the cornea has become opaque. Leukocoria is a white pupil, often caught these days by social media using digital photos. What we see here is retinoblastoma – the most worrisome cause of Leukocoria, in the right eye in the top image, and in the left eye of the bottom image. Here are some things we are going to study today regarding this issue, and we are going to spend about half the time on white pupils caused by this rare but very serious cancer of the eye, Retinoblastoma. We will talk about locations of the tumors when they do happen, and treatments. We will also talk about some dietary causes of leukocoria, as well as genetic causes and some syndromes that will lead to it. Along the way, we will also cover differential infectious causes, and, of course, the general cataract. 1. Which is the minimum number of tumors per eye that are seen to prove a case of genetic retinoblastoma? 2. What is the treatment of choice for retinoblastoma in recent years? 3. What is “trilateral” retinoblastoma? Where is the third tumor found in these cases? 4. Which cause of leukocoria is affected by diet? 5. Which cause of leukocoria is genetic and inherited less than 10% of the time? Figure 2: Bruchner test reflexes showing asymmetry So, what causes white pupils? White pupils can be caused of the refractive error. Photo source: by many things. In the case of Figure 2, we have the most http://www.ojoonlineorg/article.asp?issn=0974- 620X-year=2010:volume=3:issue=3:spage=131: common cause, asymmetry of the refractive area, or epage=135;aulast=Amitava anisometropia. Here we have a Bruckner test reflex. Bruckner is a great way to first detect anisometropia. This is when you use your Direct Ophthalmoscope, or similar, to put a spot of light over both eyes about a foot away from the patient. What you see is the eye that is on-fovea will have a darker pupil and an eye that is off-fovea, even by a little bit, say in the case of micro-strabismus, in the absence of media opacity, you will see a brighter pupil. It could also happen if the refractive error is not the same in the two eyes, and the light is not as well focused in one eye as in the other. Thus, Bruckner is a great way to catch anisometropia, which is the most common cause of apparent leukocoria. Figure 2 (a) shows a 10 year old girl with an asymmetry in the reflex. Her prescription for the right eye ended up being a spherical equivalent of about -2.25D, 2.50D of which was with-the-rule astigmatism. Her left eye had a smaller prescription, the spherical equivalent being -1.25D, so the total anisometropia was about 1.00D with the right eye being more myopic. In Fig 2 (b), we see the reflex of a 14 year old girl. There is barely any asymmetry noticeable, and that is because the patient had a prescription of OD: +5.50-2.50 x 090, and OS +6.50-3.50 x 090, which gives us a spherical equivalent within 0.50D in the +4.50D range. Fig 2 (c) is a 13 year old male. This is the last example of our Bruckner reflex – this is sometimes called photorefraction. There is apparent asymmetry, as well. This particular example happens to be a very high myope, which all of us have seen on retinoscopy. The right eye here is -11.00D and the left eye is -13.00D. You can see that the right eye is a little bit brighter, with a better light focus on the back of the retina. The dimmer image is generally going to be the less focused image if there is no strabismus present or media opacity. Table 1 That is the “pseudo-leukocoria” that you want to be aware of, that is by far the most common cause. Now let’s talk about the pathological causes of leukocoria. Table 1 lists the causes we are going to cover today in detail, starting with Retinoblastoma, moving on to congenital cataract and Coats’ Disease, and finally, wrapping up with Persistent Hyperplastic Primary Figure 3: Pseudo-leukocoria Photo source: Vitreous (PHPV). Along the way, we will talk about other http://www.clearviewsouthbay.com/tmp/ conditions like toxocariasis that can mimic these things. pseudo -leukocoria Figure 3, from a private practitioner’s office, is a pseudo- leukocoria that has a tendency to send parents, relatives and friends on social media into a panic, when the left eye looks like it’s dilated and very bright compared to the right eye. You would be worried about retinoblastoma here, but this is just due to position of gaze being off-axis compared to the axis of the camera flash. Leukocoria Cause #1: Retinoblastoma This is more worrisome, when we see something like Figure 4. This is, of course, retinoblastoma, and this is always the red-flag, albeit rare, cause of leukocoria. We are going to spend a disproportionate amount of time on this condition, even though it is the most rare of all causes. The left pupil here is white because there is a mass abutting the back of the lens. This is the most serious cause, and can be life- threatening. It happens in the very young pediatric population, which is why this is listed as a pediatric course for co-credit. Figure 4: Retinoblastoma OS Figure 5: Retinoblastoma OS. Photo source: Let’s talk about Retinoblastoma definitions. The National Eye http://www.hinsdale86.org/staff/kgabric/Dise Institute (NEI) defines retinoblastoma as a cancer that forms in ase09/Retinoblastoma/Retinoblastoma%20Hel p%20and%20Prevention.htm the tissues of the retina and it should happen before age 5. What may be surprising to you is that fewer than 10% of these come from a familial case. Thus, in 1/10 or fewer cases, it’s something that runs in the family, and if you have one sibling who has this, then you should check all of the family members that you can, especially the young ones. 1 in 4 are new mutations, but 2/3 of them are metastatic from elsewhere in the body. It is a cancer, and it is therefore, genetic, but it is not always inherited. In fact, most cases are not – they come from cancers elsewhere, even at this young age. The eye is a very small organ, and cancers that originate in the eye, genetic, inheritable, or otherwise, are not all that common. We should make a note that spontaneous metastasis are something we need to look for – the entire body needs to be checked by oncology. This may be, and in fact has been noted to be, the most common eye tumor in kids. We are looking at only 1 in 15,000 to 20,000 children, and always before kindergarten or 1 st grade age. It peaks in the toddler age group (1-2 years), before the kids are really able to talk to tell us that they cannot really see out of one eye, which is the consequence of this condition in whole or in part. 1 in 3 cases have retinoblastoma in both eyes, though it may present asymmetrically. There is a trilateral type of retinoblastoma which is really scary. The third ‘eye tumor’ being the pineal gland. All of these children need to be checked to make sure that they don’t have a pinealoma in addition to retinoblastoma in one or both eyes. There are cases of familial retinoblastoma where an older sibling has been lost due to thinking that treatment of one eye was all that needed to be done. The earlier, the better, in regards to diagnosis. Causes of retinoblastoma Figure 6: Early retinoblastoma. Photo source: http://en.wikipedia.org/wiki/File:Retinoblastoma.jpg How many of us can get the kind of view shown in Figure 6 even when a good dilation occurs in a child? This figure is probably taken under general anesthesia, but we need to be aware that if we get a cooperative child who can sit long enough to get a retinal photo, that will let us see a lot better than our view with BIO.
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